Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During the period January 1994 to December 1997, a total of 560 cognitively delayed children were prospectively screened for congenital hypothyroidism in the paediatric neurology clinic at Jordan University Hospital. Seventeen (3%) children were diagnosed to have congenital hypothyroidism. Mean age at diagnosis was 15 months (range 1.8-72 months). Main presenting symptoms (other than cognitive delay) were seizures, lethargy, poor feeding, constipation and prolonged neonatal jaundice. Thirteen (76.5%) of the 17 extrathyroid-associated anomalies involved the central nervous system (CNS). This finding reflects the study population chosen for the present study. All 17 patients had some degree of cognitive improvement ranging from slight improvement to achieving normal milestones after taking L-thyroxine. Congenital hypothyroidism is common in cognitively delayed children. The presence of major abnormality of the CNS should not be regarded as the only possible cause of cognitive delay and thyroid function should be assessed in such children.
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PMID:Screening for congenital hypothyroidism in cognitively delayed children. 992 83

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with an incidence of 1:2,000 to 1:4,000 live births and it is a leading preventable mental retardation. Neonatal Screening Programs allow early identification of the disease and the adequate treatment of affected children can avoid the complications related to deprivation of the hormone. Most cases of primary congenital hypothyroidism (85%) are due to thyroid dysgenesis (ectopia, hypoplasia or agenesis) while the remaining result from defects in hormone synthesis. Affected children (> 95%) usually have no symptoms suggesting the disease at birth. The most frequent symptoms and signs are prolonged neonatal jaundice, hoarse cry, lethargy, slow movements, constipation, macroglossia, umbilical hernia, large fontanelle, hypotonia and dry skin. Around the world, various strategies are used for the screening of the CH. In Brazil, screening for CH is mandatory by law and usually done by serum TSH in dried blood collected from the heel. The recommended age for performing this test is after 48 hours of life until the 4th day. Diagnostic confirmation is required dosing TSH and free T4 or total T4 in serum.
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PMID:Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. 2368 Dec 64